Canonical Allele Identifier: CA379472539

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6636418C>G (hg19) ; chr11:g.6615187C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615187C>G , CM000673.2:g.6615187C>G	GRCh38
NC_000011.9:g.6636418C>G , CM000673.1:g.6636418C>G	GRCh37
NC_000011.8:g.6592994C>G	NCBI36
NG_008653.1:g.9275G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1295G>C	ENSP00000507321.1:p.Trp432Ser
ENST00000299427.12:c.1409G>C MANE Select	ENSP00000299427.6:p.Trp470Ser
ENST00000524611.2:n.269G>C
ENST00000524924.2:n.529G>C
ENST00000533371.6:c.680G>C	ENSP00000437066.1:p.Trp227Ser
ENST00000642892.1:c.680G>C	ENSP00000494165.1:p.Trp227Ser
ENST00000643342.1:c.482G>C
ENST00000643439.1:c.*1149G>C	ENSP00000495849.1:n.*1149G>C
ENST00000643479.1:n.1595G>C
ENST00000643516.1:c.918G>C
ENST00000644218.1:c.1220G>C	ENSP00000493574.1:p.Trp407Ser
ENST00000644683.1:c.*862G>C	ENSP00000494085.1:n.*862G>C
ENST00000644810.1:c.1130G>C	ENSP00000495895.1:p.Trp377Ser
ENST00000644831.1:n.1585G>C
ENST00000644933.1:c.*275G>C	ENSP00000496133.1:n.*275G>C
ENST00000645285.1:c.*275G>C	ENSP00000495058.1:n.*275G>C
ENST00000645331.1:n.2614G>C
ENST00000645620.1:c.680G>C	ENSP00000493657.1:p.Trp227Ser
ENST00000646691.1:n.1296G>C
ENST00000646777.1:n.1742G>C
ENST00000647016.1:n.1889G>C
ENST00000647152.1:c.680G>C	ENSP00000495893.1:p.Trp227Ser
ENST00000647209.1:c.*1278G>C	ENSP00000495558.1:n.*1278G>C
ENST00000647346.1:n.2429G>C
ENST00000299427.10:c.1409G>C	ENSP00000299427.6:p.Trp470Ser
ENST00000524611.1:n.287G>C
ENST00000533371.5:c.680G>C	ENSP00000437066.1:p.Trp227Ser
ENST00000611494.4:c.1409G>C	ENSP00000484546.1:p.Trp470Ser
NM_000391.3:c.1409G>C	NP_000382.3:p.Trp470Ser
NM_000391.4:c.1409G>C MANE Select	NP_000382.3:p.Trp470Ser